rs863224523

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(AA;AA)	0	common in clinvar

Make rs863224523(-;-)

Make rs863224523(-;AA)

Reference

GRCh38.p2 38.2/146

Chromosome

12

Position

88086416

Gene

CEP290

is a	snp
is	mentioned by
dbSNP	rs863224523
dbSNP (classic)	rs863224523
ClinGen	rs863224523
ebi	rs863224523
HLI	rs863224523
Exac	rs863224523
Gnomad	rs863224523
Varsome	rs863224523
LitVar	rs863224523
Map	rs863224523
PheGenI	rs863224523
Biobank	rs863224523
1000 genomes	rs863224523
hgdp	rs863224523
ensembl	rs863224523
geneview	rs863224523
scholar	rs863224523
google	rs863224523
pharmgkb	rs863224523
gwascentral	rs863224523
openSNP	rs863224523
23andMe	rs863224523
SNPshot	rs863224523
SNPdbe	rs863224523
MSV3d	rs863224523
GWAS Ctlg	rs863224523

Max Magnitude

0

ClinVar
Risk	rs863224523(-;-)
Alt	rs863224523(-;-)
Reference	Rs863224523(AA;AA)
Significance	Pathogenic
Disease	Joubert syndrome
Variation	info
Gene	CEP290
CLNDBN	Joubert syndrome
Reversed	1
HGVS	NC_000012.11:g.88480193_88480194delTT
CLNSRC
CLNACC	RCV000196701.1,